KCP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 2257852	NM_001366122.1(KCP):c.4867G>A (p.Glu1623Lys)	KCP (E1623K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395673	NM_001366122.1(KCP):c.4865G>A (p.Arg1622Gln)	KCP (R1622Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367760	NM_001366122.1(KCP):c.4801G>A (p.Glu1601Lys)	KCP (E1601K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287775	NM_001366122.1(KCP):c.4796C>T (p.Pro1599Leu)	KCP (P1599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287780	NM_001366122.1(KCP):c.4729G>A (p.Val1577Met)	KCP (V1577M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287781	NM_001366122.1(KCP):c.4679G>A (p.Arg1560His)	KCP (R1560H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210425	NM_001366122.1(KCP):c.4678C>T (p.Arg1560Cys)	KCP (R1560C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287776	NM_001366122.1(KCP):c.4609A>G (p.Thr1537Ala)	KCP (T1537A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113579	NM_001366122.1(KCP):c.4601G>A (p.Arg1534Gln)	KCP (R1534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212607	NM_001366122.1(KCP):c.4589C>T (p.Thr1530Ile)	KCP (T1530I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113578	NM_001366122.1(KCP):c.4483G>A (p.Ala1495Thr)	KCP (A1495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273521	NM_001366122.1(KCP):c.4476C>A (p.Phe1492Leu)	KCP (F1492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287779	NM_001366122.1(KCP):c.4472C>G (p.Pro1491Arg)	KCP (P1491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616370	NM_001366122.1(KCP):c.4466C>T (p.Pro1489Leu)	KCP (P1489L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113577	NM_001366122.1(KCP):c.4444C>T (p.Arg1482Cys)	KCP (R1482C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526290	NM_001366122.1(KCP):c.4441A>G (p.Ser1481Gly)	KCP (S1481G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346905	NM_001366122.1(KCP):c.4411C>T (p.Arg1471Trp)	KCP (R1471W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334056	NM_001366122.1(KCP):c.4396C>T (p.Arg1466Cys)	KCP (R1466C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403092	NM_001366122.1(KCP):c.4382G>T (p.Gly1461Val)	KCP (G1461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350301	NM_001366122.1(KCP):c.4367C>T (p.Pro1456Leu)	KCP (P1456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570040	NM_001366122.1(KCP):c.4355G>A (p.Arg1452Gln)	KCP (R1452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389224	NM_001366122.1(KCP):c.4337G>A (p.Arg1446Gln)	KCP (R1446Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525893	NM_001366122.1(KCP):c.4336C>T (p.Arg1446Trp)	KCP (R1446W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348814	NM_001366122.1(KCP):c.4292C>T (p.Ala1431Val)	KCP (A1431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537098	NM_001366122.1(KCP):c.4289C>T (p.Ala1430Val)	KCP (A1430V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287786	NM_001366122.1(KCP):c.4283C>T (p.Ser1428Leu)	KCP (S1428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241227	NM_001366122.1(KCP):c.4219T>G (p.Cys1407Gly)	KCP (C1407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287784	NM_001366122.1(KCP):c.4183G>C (p.Val1395Leu)	KCP (V1395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235870	NM_001366122.1(KCP):c.4130C>T (p.Ala1377Val)	KCP (A1377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 994312	NM_001366122.1(KCP):c.4120A>T (p.Ile1374Phe)	KCP (I1374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3113576	NM_001366122.1(KCP):c.4064C>T (p.Ala1355Val)	KCP (A1355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113575	NM_001366122.1(KCP):c.4025T>A (p.Leu1342Gln)	KCP (L1342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113574	NM_001366122.1(KCP):c.4010T>C (p.Met1337Thr)	KCP (M1337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113573	NM_001366122.1(KCP):c.3962G>A (p.Arg1321Gln)	KCP (R1321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240202	NM_001366122.1(KCP):c.3944C>A (p.Thr1315Asn)	KCP (T1315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513300	NM_001366122.1(KCP):c.3907A>G (p.Lys1303Glu)	KCP (K1303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221342	NM_001366122.1(KCP):c.3866G>A (p.Arg1289His)	KCP (R1289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460125	NM_001366122.1(KCP):c.3851G>A (p.Arg1284His)	KCP (R1284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113571	NM_001366122.1(KCP):c.3800G>A (p.Arg1267His)	KCP (R1267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287788	NM_001366122.1(KCP):c.3769C>T (p.Pro1257Ser)	KCP (P1257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561501	NM_001366122.1(KCP):c.3734G>A (p.Arg1245His)	KCP (R1245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241541	NM_001366122.1(KCP):c.3733C>T (p.Arg1245Cys)	KCP (R1245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242204	NM_001366122.1(KCP):c.3732G>T (p.Gln1244His)	KCP (Q1244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 994300	NM_001366122.1(KCP):c.3715G>A (p.Val1239Met)	KCP (V1239M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3113570	NM_001366122.1(KCP):c.3707C>T (p.Ala1236Val)	KCP (A1236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621584	NM_001366122.1(KCP):c.3691A>G (p.Ser1231Gly)	KCP (S1231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113569	NM_001366122.1(KCP):c.3646C>T (p.Arg1216Cys)	KCP (R1216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295893	NM_001366122.1(KCP):c.3646C>A (p.Arg1216Ser)	KCP (R1216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113568	NM_001366122.1(KCP):c.3421C>T (p.Arg1141Trp)	KCP (R1141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357094	NM_001366122.1(KCP):c.3415G>A (p.Val1139Ile)	KCP (V1139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287789	NM_001366122.1(KCP):c.3325G>A (p.Asp1109Asn)	KCP (D1109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277715	NM_001366122.1(KCP):c.3208C>G (p.Pro1070Ala)	KCP (P1070A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287777	NM_001366122.1(KCP):c.3193C>G (p.Pro1065Ala)	KCP (P1065A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287778	NM_001366122.1(KCP):c.3190C>T (p.Pro1064Ser)	KCP (P1064S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113566	NM_001366122.1(KCP):c.3190C>A (p.Pro1064Thr)	KCP (P1064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588789	NM_001366122.1(KCP):c.3058C>T (p.Arg1020Trp)	KCP (R1020W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113565	NM_001366122.1(KCP):c.2995G>A (p.Ala999Thr)	KCP (A999T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390046	NM_001366122.1(KCP):c.2972G>A (p.Arg991His)	KCP (R991H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383731	NM_001366122.1(KCP):c.2950G>A (p.Glu984Lys)	KCP (E984K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261941	NM_001366122.1(KCP):c.2924G>A (p.Ser975Asn)	KCP (S975N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113564	NM_001366122.1(KCP):c.2851T>G (p.Cys951Gly)	KCP (C951G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287785	NM_001366122.1(KCP):c.2842G>A (p.Gly948Arg)	KCP (G948R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207858	NM_001366122.1(KCP):c.2840G>A (p.Arg947Gln)	KCP (R947Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3113563	NM_001366122.1(KCP):c.2836G>A (p.Glu946Lys)	KCP (E946K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113562	NM_001366122.1(KCP):c.2774C>T (p.Ala925Val)	KCP (A925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353556	NM_001366122.1(KCP):c.2740C>T (p.Pro914Ser)	KCP (P914S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537827	NM_001366122.1(KCP):c.2708G>A (p.Arg903Gln)	KCP (R903Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363057	NM_001366122.1(KCP):c.2703G>C (p.Gln901His)	KCP (Q901H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113561	NM_001366122.1(KCP):c.2650C>T (p.His884Tyr)	KCP (H884Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309510	NM_001366122.1(KCP):c.2635C>T (p.Pro879Ser)	KCP (P879S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550450	NM_001366122.1(KCP):c.2633C>T (p.Pro878Leu)	KCP (P878L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113560	NM_001366122.1(KCP):c.2612G>A (p.Arg871His)	KCP (R871H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303620	NM_001366122.1(KCP):c.2611C>T (p.Arg871Cys)	KCP (R871C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276258	NM_001366122.1(KCP):c.2531T>C (p.Val844Ala)	KCP (V844A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227973	NM_001366122.1(KCP):c.2518C>T (p.Arg840Cys)	KCP (R840C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405500	NM_001366122.1(KCP):c.2510A>G (p.Gln837Arg)	KCP (Q837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327360	NM_001366122.1(KCP):c.2510A>C (p.Gln837Pro)	KCP (Q837P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556617	NM_001366122.1(KCP):c.2428G>A (p.Val810Met)	KCP (V810M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327846	NM_001366122.1(KCP):c.2395C>T (p.Pro799Ser)	KCP (P799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488313	NM_001366122.1(KCP):c.2314G>A (p.Asp772Asn)	KCP (D772N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351728	NM_001366122.1(KCP):c.2312G>A (p.Gly771Asp)	KCP (G771D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275476	NM_001366122.1(KCP):c.2273A>G (p.Lys758Arg)	KCP (K758R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2590608	NM_001366122.1(KCP):c.2218A>G (p.Thr740Ala)	KCP (T740A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113559	NM_001366122.1(KCP):c.2184G>T (p.Lys728Asn)	KCP (K728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113558	NM_001366122.1(KCP):c.2152C>A (p.Pro718Thr)	KCP (P718T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113557	NM_001366122.1(KCP):c.2140G>A (p.Gly714Arg)	KCP (G714R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479098	NM_001366122.1(KCP):c.2134C>T (p.Arg712Cys)	KCP (R712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466664	NM_001366122.1(KCP):c.2128C>T (p.His710Tyr)	KCP (H710Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221806	NM_001366122.1(KCP):c.2044C>T (p.Pro682Ser)	KCP (P682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229267	NM_001366122.1(KCP):c.2015A>C (p.His672Pro)	KCP (H672P)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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